Zygotes Segregate Entire Parental Genomes in Distinct Blastomere Lineages Causing Cleavage-Stage Chimerism and Mixoploidy
Downloaded from genome.cshlp.org on October 2, 2021 - Published by Cold Spring Harbor Laboratory Press Research Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy Aspasia Destouni,1,8 Masoud Zamani Esteki,2,8 Maaike Catteeuw,3 Olga Tšuiko,1,4 Eftychia Dimitriadou,1 Katrien Smits,3 Ants Kurg,4 Andres Salumets,5,6 Ann Van Soom,3 Thierry Voet,2,7,9 and Joris R. Vermeesch1,9 1Laboratory of Cytogenetics and Genome Research, Center of Human Genetics, KU Leuven, Leuven, 3000, Belgium; 2Laboratory of Reproductive Genomics, Center of Human Genetics, KU Leuven, Leuven, 3000, Belgium; 3Department of Obstetrics, Reproduction and Herd Health, Ghent University, Ghent, 9820, Belgium; 4Institute of Molecular and Cell Biology, Tartu University, Tartu, 51010, Estonia; 5Competence Centre on Health Technologies, Tartu, 50410, Estonia; 6Department of Obstetrics and Gynecology, University of Tartu, Tartu, 51014, Estonia; 7Sanger-EBI Single Cell Genomics Centre, Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, United Kingdom Dramatic genome dynamics, such as chromosome instability, contribute to the remarkable genomic heterogeneity among the blastomeres comprising a single embryo during human preimplantation development. This heterogeneity, when com- patible with life, manifests as constitutional mosaicism, chimerism, and mixoploidy in live-born individuals. Chimerism and mixoploidy are defined by the presence of cell lineages with different parental genomes or different ploidy states in a single individual, respectively. Our knowledge of their mechanistic origin results from indirect observations, often when the cell lineages have been subject to rigorous selective pressure during development. Here, we applied haplarithmisis to infer the haplotypes and the copy number of parental genomes in 116 single blastomeres comprising entire preimplantation bovine embryos (n = 23) following in vitro fertilization.
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